Hannu Somer

University of Helsinki — Finland

Biochemistry, Genetics and Molecular Biology · Life Sciences

43h-index9.9kcitations162works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(47), Genetic Neurodegenerative Diseases(30), Mitochondrial Function and Pathology(24), Cardiomyopathy and Myosin Studies(15), Metabolism and Genetic Disorders(15)

Publications162 total

Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis
Amyloid·2009
Primary brain lymphoma
Acta Neurologica Scandinavica·2009· 1 cited
Duchenne like muscular dystrophy in two sisters: evidence for autosomal recessive inheritance
Acta Neurologica Scandinavica·2009
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis
Amyloid·2009· 1 cited
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: A case report
Amyloid·2007· 29 cited
Neurology
2006
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
Nature Genetics·2005· 241 cited
Myopathy is a prominent feature in Marinesco-Sjögren syndrome
Journal of Neurology·2005· 13 cited
Myotonias and Army Personnel: Symptoms and Effects on Service Fitness
Military Medicine·2005· 2 citedOpen Access
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
The Lancet·2004· 540 cited
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy
Acta Neurologica Scandinavica·2004· 31 cited
Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms
Clinical Physiology and Functional Imaging·2004· 18 cited
Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)
Neuromuscular Disorders·2004· 18 cited
Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2)
Journal of Neurology·2004· 25 cited
A distinct phenotype of distal myopathy in a large Finnish family
Neurology·2003· 30 cited
Pure quadriceps myopathy in two sisters
European Journal of Neurology·2003· 5 cited
Erratum: J Neurol (2002) 249:730-734
Journal of Neurology·2002Open Access
Welander distal myopathy outside the Swedish population: phenotype and genotype
Neuromuscular Disorders·2002· 28 cited
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
Nature·2002· 793 cited
Axial myopathy - an unrecognised entity
Journal of Neurology·2002· 46 cited
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Frequent Co-authors

Matti Haltia(9), Aarne Konttinen(8), Anders Paetau(7), Anu Suomalainen(6), Helena Pihko(6), Pirkko Santavuori(5), Juhani Rapola(5), Leena Peltonen(4), Laura‐Maria Peltonen(3), Leena Peltonen(3), Anna Majander(3), I. Mahjneh(3), Hannu Kalimo(3), Mirja Somer(3), Kimmo Sainio(3), Henna Haravuori(3), Leena Valanne(3), Markku Kaste(3), Yaoqin Gong(2), William N. Adkins(2)